Summary
Definition
History and exam
Key diagnostic factors
- pouca idade (NEM1/2)
- história familiar positiva (NEM1/2)
- tríade episódica de transpiração, palpitações e cefaleia (NEM2)
- características clínicas da nefrolitíase (NEM1/2)
- angiofibromas faciais ou colagenomas (NEM1)
- neuromas mucosos (NEM2B)
- amplitude do braço e proporção entre a parte superior e a parte inferior do corpo (NEM2B)
- nódulo palpável da tireoide (NEM2)
- menstruação irregular (NEM1)
- alterações visuais (NEM1)
- rubor sem explicação (NEM2)
- infertilidade (NEM1)
- características clínicas de acromegalia (NEM1)
- características clínicas de tireotoxicose (NEM1)
Other diagnostic factors
- alterações de peso (NEM1/2)
- hipertensão (NEM1/2)
- dor abdominal (NEM1/2)
- cefaleia (NEM1/2)
- fraturas por baixo impacto (NEM1)
- hábito intestinal alterado (NEM1/2)
- palpitações (NEM1/2)
- fácil formação de hematomas (NEM1/2)
- cicatrização lenta de feridas (NEM1/2)
- disfunção erétil (NEM1)
- características clínicas de hipercortisolismo/síndrome de Cushing (NEM1/2)
- ansiedade (NEM1/2)
- intolerância ao calor (NEM1)
- confusão mental (NEM1/2)
- desidratação (NEM1/2)
- hemorragia digestiva (NEM2)
- hepatomegalia (NEM2)
Risk factors
- casos familiares de neoplasia endócrina múltipla (NEM)
- mutação do proto-oncogene RET
- mutação do gene NEM1 (menin)
Diagnostic investigations
1st investigations to order
- calcitonina sérica (NEM2)
- antígeno carcinoembriogênico sérico (NEM2)
- metanefrinas plasmáticas (NEM2)
- paratormônio e cálcio séricos (NEM1/2)
- gastrina sérica em jejum (NEM1)
- cromogranina A sérica (NEM1)
- prolactina sérica (NEM1)
- fator de crescimento semelhante à insulina-1 (NEM1)
- urina de 24 horas para metanefrinas e catecolaminas (NEM2)
- cálcio urinário de 24 horas (NEM1/2)
- biópsia da tireoide (NEM2)
Investigations to consider
- glicose sérica/insulina em jejum (NEM1)
- peptídeo C sérico (NEM1)
- gastrina estimulada por cálcio (NEM1)
- pró-insulina sérica (NEM1)
- polipeptídeo pancreático sérico (NEM1)
- glucagon sérico (NEM1)
- T4 (tiroxina livre) (NEM1)
- hormônio estimulante da tireoide (TSH) (NEM1)
- teste de supressão com dexametasona (NEM1/2)
- sulfonilureia urinária (NEM1/2)
- exame com metaiodobenzilguanidina (MIBG) (NEM2)
- tomografia por emissão de pósitrons (PET) com flúor-18 di-hidroxifenilalanina (18F-DOPA)/TC abdominal e da pelve (NEM2)
- exame com octreotida (NEM1)
- PET com DOTATATE marcado com gálio-68/TC abdominal e da pelve (NEM1 e 2)
- exame com tecnécio-99 sestamibi (NEM1/2)
- TC abdominal (NEM1/2)
- ressonância nuclear magnética (RNM) abdominal (NEM1/2)
- tomografia computadorizada (TC) do tórax ou ressonância nuclear magnética (RNM) (NEM1)
- ressonância nuclear magnética (RNM) hipofisária (NEM1)
- ultrassonografia endoscópica (NEM1)
- endoscopia digestiva alta (NEM1)
- teste respiratório para Helicobacter pylori, biópsia ou teste do antígeno fecal (NEM1/2)
Treatment algorithm
história familiar de neoplasia endócrina múltipla (NEM) tipo 2
NEM1
neoplasia endócrina múltipla (NEM) tipo 2
Contributors
Authors
Rebecca Gorrigan, BSc, MBChB (hons), MRCP
Consultant Physician and Endocrinologist
Department of Endocrinology
Barts and the London NHS Trust and Queen Mary University of London
London
UK
Disclosures
RG declares that she has no competing interests.
Maralyn Druce, MA, MRCP, PhD
Professor of Endocrine Medicine
Department of Endocrinology
Barts and the London Medical School
London
UK
Disclosures
MD has received fees for consulting from Ipsen and Novartis; their products are used in the treatment of neuroendocrine tumours. Neuroendocrine tumours of the pancreas are features of MEN1. The topic does not discuss specific therapies for features of the condition.
Acknowledgements
Dr Rebecca Gorrigan and Professor Maralyn Druce would like to gratefully acknowledge Dr Jennifer Mammen and Dr Roberto Salvatori, previous contributors to this topic.
Disclosures
JM and RS declare that they have no competing interests.
Peer reviewers
Michael Levine, MD, FAAP, FACP
Director
Division of Endocrinology and Diabetes
The Children's Hospital of Philadelphia
Philadelphia
PA
Disclosures
ML declares that he has no competing interests.
Salvatore Corsello, MD
Associate Professor of Endocrinology
Catholic University School of Medicine
Rome
Italy
Disclosures
SC declares that he has no competing interests.
References
Key articles
Thakker RV, Newey PJ, Walls GV, et al; Endocrine Society. Clinical practice guidelines for multiple endocrine neoplasia type 1 (MEN1). J Clin Endocrinol Metab. 2012 Sep;97(9):2990-3011.Full text Abstract
Wells SA Jr, Pacini F, Robinson BG, et al. Multiple endocrine neoplasia type 2 and familial medullary thyroid carcinoma: an update. J Clin Endocrinol Metab. 2013 Aug;98(8):3149–64.Full text Abstract
Wells SA Jr, Asa SL, Dralle H, et al. Revised American Thyroid Association guidelines for the management of medullary thyroid carcinoma. Thyroid. 2015 Jun;25(6):567-610.Full text Abstract
Al-Salameh A, Cadiot G, Calender A, et al. Clinical aspects of multiple endocrine neoplasia type 1. Nat Rev Endocrinol. 2021 Apr;17(4):207-24.Full text Abstract
Reference articles
A full list of sources referenced in this topic is available to users with access to all of BMJ Best Practice.
Differentials
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